Does Recessive Optic Atrophy Due to WFS1 Exist?
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: analyse study.
- Who it may be relevant to
- Registry conditions: Wolfram Syndrome 1, Optic Atrophies, Hereditary. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Does Recessive Optic Atrophy Due to WFS1 is a Specific Entity Different From Wolfram Syndrome?
Overview
All patients with Wolfram syndrome and recessive optic atrophy due to a mutation of the WFS1 from a single Center were included in a retrospective study. Evolution of the visual acuity since the occurrence of the optic atrophy and its last value, OCT data, genetic data and systemic manifestations were analyzed.
Detailed description
Ophthalmological date will be include : farsighted best corrected visual acuity (BCVA) assessment, slit-lamp examination of the anterior segment, Goldman aplanation tonometry, funduscopy, retinography, Goldman manual visual field and optical coherent tomography (OCT). These will include global value of Retinal Nerve Fiber Layer (RNFL) thickness as well as the ganglion cell complex (GCC) thickness.
Interventions
- Other analyse study
Retrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation
Primary outcome measures
- Visual acuity at the last visit [Time frame: The last visit will be registered regardless of the time elapsed since the onset of the disease, considered as a baseline]
Secondary outcome measures (3)
- Evolution of visual acuity [Time frame: Measurement at the occurence of the disease considered as baseline and at the last visit]
- Age [Time frame: At the occurence of the disease considered as baseline]
- Global RNFL thickness [Time frame: Measurement at the occurence of the disease considered as baseline and at the last visit]
Eligibility criteria
Inclusion criteria
- WFS1 mutation
Exclusion criteria
- WFS2 mutation
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT07336966 · ROAWFS1